Abstract
X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. As an atypical finding, the MRI showed multiple congenital brain development defects. (Case 2) A 63-years-old male with a previous diagnosis of Addison disease, with a 6-years-long history of spastic paraparesis. Two years later, he complained of severe and disabling burning pain in his feet. A nerve conduction study was normal, but a skin biopsy revealed autonomic and somatic small fiber neuropathy. In both cases, genetic testing disclosed hemizygous mutation in ABCD1 associated with x-ALD: c.1394-2A > G and p.(Thr254Met), respectively. While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possib...Continue Reading
References
Feb 20, 1978·Acta Neuropathologica·P EvrardG Lyon
Apr 1, 1976·Journal of Neurochemistry·M IgarashiK Suzuki
Apr 1, 1986·American Journal of Medical Genetics·R I KelleyH W Moser
Aug 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·B R MigeonR A Norum
Feb 1, 1994·Human Molecular Genetics·J MosserJ L Mandel
Feb 25, 1993·Nature·J MosserP Aubourg
Nov 24, 1999·Neurology·D N HerrmannJ C McArthur
Feb 28, 2001·Annals of Neurology·B M van GeelG V Raymond
Apr 7, 2005·The Journal of Pediatrics·Prachi DubeyHugo W Moser
Sep 30, 2005·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·G LauriaUNKNOWN European Federation of Neurological Societies
Dec 31, 2005·American Journal of Human Genetics·Sacha FerdinandusseTuomo Glumoff
Jan 27, 2006·Annals of Neurology·Vincenzo DonadioLucio Santoro
Oct 24, 2006·Biochimica Et Biophysica Acta·Steven J SteinbergHugo W Moser
Apr 27, 2007·Human Mutation·Sacha FerdinandusseHans R Waterham
Jun 4, 2008·The Journal of Clinical Investigation·Masoud ShekarabiGuy A Rouleau
Sep 23, 2008·Pediatric Neurology·Neeraj KumarSurendra K Bansal
Feb 21, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Marco L LoggiaBernard Brais
Nov 15, 2011·Current Opinion in Nephrology and Hypertension·Sonia BergayaJuliette Hadchouel
Apr 10, 2012·Biochimica Et Biophysica Acta·Stephan KempPatrick Aubourg
Aug 15, 2012·Orphanet Journal of Rare Diseases·Marc EngelenBwee Tien Poll-The
Jun 12, 2013·Neurology·Khriezhanuo NakhroKi Wha Chung
Apr 11, 2014·Neurology·Morten A HornChantal M E Tallaksen
Aug 15, 2014·Current Neurology and Neuroscience Reports·Marc EngelenBwee-Tien Poll-The
Oct 10, 2014·Continuum : Lifelong Learning in Neurology·Christopher H Gibbons